Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7216064
rs7216064
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.810 GeneticVariation GWASCAT Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. 31326317 2019
dbSNP: rs7216064
rs7216064
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		0.810 GeneticVariation BEFREE Two new signals were observed at genome-wide significance (P < 5 × 10-8), namely, rs7216064 (17q24.3, BPTF), for overall lung adenocarcinoma risk, and rs3817963 (6p21.3, BTNL2) which is specific to cases with EGFR mutations. 28025329 2017
dbSNP: rs7216064
rs7216064
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.810 GeneticVariation GWASCAT Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma. 27501781 2016
dbSNP: rs7216064
rs7216064
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.810 GeneticVariation GWASCAT A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. 22797724 2012
dbSNP: rs7216064
rs7216064
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.810 GeneticVariation GWASDB A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. 22797724 2012
dbSNP: rs12449442
rs12449442
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs12449442
rs12449442
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12449442
rs12449442
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs200595745
rs200595745
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		A 0.700 GeneticVariation GWASCAT Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. 31326317 2019
dbSNP: rs2080090
rs2080090
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0518026
Disease:
body fat percentage (physical finding) 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs4790941
rs4790941
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs4791212
rs4791212
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7218014
rs7218014
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12602912
rs12602912
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs60856912
rs60856912
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0476089
Disease:
Endometrial Carcinoma 		T 0.700 GeneticVariation GWASCAT Identification of nine new susceptibility loci for endometrial cancer. 30093612 2018
dbSNP: rs61676547
rs61676547
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C2673431
Disease:
Abnormality of the periventricular white matter 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0004134
Disease:
Ataxia 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1839798
Disease:
Long nose 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0037317
Disease:
Sleep disturbances 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0041834
Disease:
Erythema 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0344541
Disease:
Persistent pupillary membranes 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1840069
Disease:
Sandal gap 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0026351
Disease:
Moderate intellectual disability 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017